Teaching NeuroImages

Focal epilepsy with skin changes

Case Vignette

• 55-year-old man presented with seizures characterized – by “tightening” of the right side and variable loss of

awareness.• EEG showed focal epileptogenic abnormalities over left

and midline central regions• Skin examination revealed cobblestoning over his

lower jaw, acral keratoses over his dorsal hands and palmar pitting.

• Colonoscopy revealed multiple gastrointestinal mucosal ganglioneuromas

Child N et al

Imaging

Child N et al

Cowden Syndrome presenting with partial epilepsy related to focal cortical dysplasia

• Genetic testing of PTEN gene confirmed a diagnosis of Cowden syndrome (CS).

• PTEN gene is a tumor suppressor gene on the mTOR pathway

• CS is an autosomal dominant condition of hamartomas and tumors1.

• MRI is abnormal in 35%, commonly showing, dysplastic gangliocytomas of cerebellum, meningiomas, and vascular malformations2.

• CS has not been reported presenting with partial epilepsy and focal cortical dysplasia.

Child N et al